Hemochromatosis and the Iron Man

Now widely considered the most common genetic disorder of Northern Europeans, hereditary hemochromatosis (HH) or iron overload disorder is a condition in which the body absorbs and retains up to 3 times the normal levels of iron that it should. While low levels of iron have long been associated with nutritional deficiencies, the effects of high levels of iron within the body were less noticeable. However, based on research culminating over the last 5 years, the number of people affected by this condition is now estimated at 1 in 250 for the population at large and 1 in 200 for those of Northern European descent.

When untreated, hemochromatosis causes a number of serious health problems including chronic fatigue, cirrhosis of the liver, liver cancer, irregular heart beats, heart failure, arthritis and diabetes. The condition causes damage to organs from the accumulation of iron within the tissues and additionally from the high levels of iron free radicals or reactive compounds that cause chemical damage. Without treatment, this accumulation of iron eventually causes organ failure and as a result, can be fatal. An additional effect of the disease that varies in severity for patients with hemochromatosis is also a suppressed immune system.

Originally thought of as a disease of the intestines as a result of iron being absorbed in the intestines, the genetic mutation associated with the disease has instead been identified with the liver. The liver is now understood to be responsible for producing the hormone that regulates iron absorption in the intestines and when the genetic mutation exists, insufficient functional hormone is produced to properly limit iron intake.

Though genetic in nature, not everyone who has the gene mutation associated with the disease will develop the condition. The one gene known to cause the disease is only responsible for 80% of cases. About 1 in 4 males with this mutation will develop hemocromatosis, but only 1% of females will. Both parents must carry the mutation for a child to develop the mutation at all. Interestingly enough, though Asians and Polynesians have naturally higher concentrations of iron in their blood, they are less likely to develop the condition than Caucasians.

Fortunately, detection of hemochromatosis is now possible with two blood tests that measure iron in the blood and how much iron the blood can hold. If the levels are too high, then a liver biopsy or a genetic test can be performed to confirm presence of the condition. Once diagnosed, the treatment regimen associated with the condition is often as simple as regularly giving blood. In some jurisdictions, this blood can go to the blood bank and help others, but in other locations, the blood is unfortunately discarded. Though regular blood extraction is the standard treatment, some doctors advocate a reduced iron diet, but others do not so the jury is out on this. An oral medication that reduces iron absorption is also available, but this too is not the generally recommended course of treatment.

It is important to note that although regularly giving blood helps with the primary problems of excess iron, it does not affect the problems associated with the immune system. Research is ongoing to understand these effects of the disease that are currently thought to be caused by creation of misshapen proteins as a result of the genetic mutation.

Because hemochromatosis is a common condition that affects so many people and can have severe outcomes if not properly treated, it is important to be aware of this condition and to check for it once when having a physical exam especially if either of your parents have been diagnosed. Since it is often treatable, many people will be able to return their iron concentrations to normal, but if you never get tested, you may find out only after some damage has been done.

If you have hemochromatosis, how did you find out? Did you ask for tests or did you find out because of testing done by your doctor?